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NCT Number: NCT01965327

Interferon Gamma-1b in Friedreich Ataxia (FRDA)

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease of children and adults for which there is presently no therapy. Recently, a study reported that interferon gamma (IFN-g) could raise frataxin protein levels in both cell lines derived from patients with Friedreich ataxia and in a mouse model with Friedreich ataxia. The present study will test whether IFN-g is safe, tolerated and potentially efficacious in a heterogeneous cohort of children with FRDA.

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Key information

Conditions

Friedreich Ataxia Brain Diseases Central Nervous System Diseases Cerebellar Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Metabolic Diseases Mitochondrial Diseases Nervous System Diseases Neurodegenerative Diseases Nutritional and Metabolic Diseases Spinal Cord Diseases Spinocerebellar Degenerations

Age range

5 year–17 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

About this study

Study Objectives:

Primary:

  • To assess the effect of Interferon Gamma-1b (IFN-g) on increasing frataxin expression and protein in children with FRDA.

Secondary:

  • To assess the effect of IFN-g on neurological outcomes (FARS, performance measures, and hearing) in subjects with FRDA.
  • To assess the effectiveness of IFN-g on quality of life in subjects with FRDA.
  • To assess the safety and tolerability of IFN-g at the currently approved dose in the FRDA population.

Study Phases:

Screening - During screening, subjects will be assessed for inclusion and exclusion criteria.

Intervention - Subjects will begin treatment at baseline visit and the dose of study medication will be increased to the maximum dose over four weeks. The subjects will be maintained at the maximum dose for 8 weeks. After 12 weeks, treatment will stop. Study medication will be administered via subcutaneous injections three times per week for 12 weeks.

Follow-up - Follow-up visits will occur at 7 and 28 days after the subject has completed the 12 weeks of active treatment.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Subjects with FRDA confirmed by genetic testing with 2 expanded Guanine-adenine-adenine repeats
  • Females who are not pregnant or breast feeding, and who do not intend to become pregnant. Females of child-bearing potential must use a reliable method of contraception and must provide a negative urine pregnancy test at screening
  • Stable doses of all medications, vitamins and supplements for 30 days prior to study entry and for the duration of the study
  • Parent/guardian permission (informed consent) and child assent

Exclusion criteria

  • Any unstable illness that in the investigator's opinion precludes participation in this study
  • Use of any investigational product within 30 days prior to enrollment
  • Subjects with a history of substance abuse
  • Presence of clinically significant cardiac disease
  • History of hypersensitivity to IFN-g or E. coli derived products
  • Presence of severe renal disease or hepatic disease
  • Clinically significant abnormal White blood cell count, hemoglobin or platelet count
  • Any subject planning a scheduled surgical procedure during the study

Treatment and study plan

Interferon gamma-1b

Drug

Subjects will begin by taking 10 mcg/m2 of IFN-g-1b for the first two weeks of the study. Dose will be escalated to 25 mcg/m2 of IFN-g-1b for weeks three and four of the study. Finally, the dose will be escalated to 50 mcg/m2 of IFN-g-1b for the last eight weeks of the study, which is the current dose approved by the FDA for children.

All doses will be administered via subcutaneous injection.

Other names: Actimmune™, IFN-g-1b

Primary outcomes

  1. Change in Whole Blood Frataxin Levels

    Time frame: Frataxin levels were measured at the beginning and conclusion of treatment (baseline and 12 weeks)

    Assessment of the change in whole blood frataxin levels as assessed by lateral flow assay using an immunoassay for frataxin. Frataxin levels in the blood were measured at each study visit. Change in frataxin level at the end of treatment (week 12) relative to frataxin level at baseline was analyzed.

Secondary outcomes

  1. Change in Total Friedreich Ataxia Rating Scale (FARS) Score

    Time frame: FARS score was calculated at the beginning and conclusion of treatment (baseline and 12 weeks)

    The Friedreich Ataxia Rating Scale (FARS) is neurological rating scale specifically developed and validated for FRDA. The FARS includes assessments of stance, gait, upper and lower limb coordination, speech, proprioception and strength. In addition to the standard neurological examination, the FARS contains three quantitative performance measures and a component that assesses activities of daily living (ADL). Quantitative performance measures include the nine-hole peg test, and a timed 25-foot walk. FARS scores correlate significantly with functional disability, activities of daily living scores and disease duration. The scores from the three subscales are added to generate a total score ranging from 0 to 159, with a higher score indicating a greater level of disability.

Sponsors and collaborators

Lead sponsor

Children's Hospital of Philadelphia

Other

Collaborators

  • Friedreich's Ataxia Research Alliance
  • Vidara Therapeutics Research Ltd

Registry information

Official study title

Open-label Pilot Study of Interferon Gamma-1b (Actimmune™) for the Treatment of Friedreich Ataxia (FRDA)

Important dates

Study start
2013
Primary completion
2014
Study completion
2014
First posted
Oct 18, 2013
Registry last updated
Apr 13, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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